强直性肌营养不良症临床与神经电生理分析

目的：探究分析强直性肌营养不良症（DM ）临床方面以及神经电生理分析方面的特点。方法：选自我院2004-2013年收治的15例强直性肌营养不良症患者,所有患者都是通过临床诊断以及神经电生理确诊,以回顾性的方法对这15例患者的临床资料进行分析。结果：对15例患者检测肌肉共75块,结果显示如下：肌强直放电方式的概率达到100％,而拇短展肌强直放电概率则为91％,小指展肌强直放电概率为81％,胫前肌强直放电概率为57％,肱二头肌强直放电发生概率为24％,股内肌强直放电发生概率为19％。15例患者的肌电图检测结果中,有10例患者发现肌源性损害,其中胫前肌7块,肱二头肌4块,股内肌3块以及拇短展肌1块。结论：强直性肌营养不良症患者在肢体方面,远端肌强直放电相对于近端肌强直放电来说,检出率明显高很多;对于上下肢的近端还有远端肌肉同时进行肌电图的检查,对于DM患者的确诊,有着非常重要的临床意义。     

2型强直性肌营养不良的唯一表现:高肌酸激酶症

1例49岁男性在过去的8年里血清肌酸激酶含量持续、孤立增高(高肌酸激酶症),而无肌营养不良症状,肌电图检查亦未发现肌强直电位。肌肉活检结果显示,该患者的表现与2型强直性肌营养不良(DM2)的形态学表现一致,从而最终诊断为DM。遗传学研究未发现1型DM(DM1)基因突变,但该患者的ZNF9基因CCTG序列异常重复扩增,该突变与DM2相关。研究结果提示,对于肌酸激酶持续增高而无临床症状的患者DM2应该是其第一诊断。2型强直性肌营养不良的唯一表现:高肌酸激酶症@Merlini L. @Sabatelli P. @Columbaro M. @R. Massa$Dipartimento di…     

强直性肌营养不良8例临床、电生理及病理特点

目的:探讨强直性肌营养不良（DM）临床、电生理和病理特点。方法:回顾性分析8例DM患者临床、电生理和病理资料。结果:8例患者均有不同程度肌无力、肌强直或肌萎缩症状。部分患者伴脱发、智力障碍、月经不规律等骨骼肌外症状。3例无明确家族史。7例患者肌电图检查可见肌强直电位发放。肌活检光镜下可见肌纤维大小不等、核内移与肌膜核增多、核聚集现象及核链形成等,1例患者可见肌浆块。还原型辅酶Ⅰ四唑氮还原酶染色可见7例肌纤维萎缩,其中5例以Ⅰ型肌纤维萎缩为主。结论:肌电图及骨骼肌活检病理检查对该病诊断有重要价值,结合具体病例的起病形式、骨骼肌及多系统受累特点等有助于对DM进一步分型;应注意遗传早现现象所致的“无家族遗传史”假象。     

甲钴胺及叶酸治疗对2型糖尿病同型半胱氨酸硫内酯解酶活性和血浆同型半胱氨酸水平的影响

目的 探讨甲钴胺、叶酸治疗对2型糖尿病患者血浆同型半胱氨酸（Hcy）及同型半胱氨酸硫内酯解酶（HTase／PON）活性的影响。方法 2型糖尿病患者120例,分为4组,每组30例,组Ⅰ：无干预对照组;组Ⅱ：给予叶酸5mg口服,1次／日;组Ⅲ：给予甲钴胺500μg肌注,17欠／日;组Ⅳ：给予叶酸5mg＋甲钴胺500μg肌注,1次／日;治疗2周。结果 干预组血浆Hcy水平比治疗前均显著下降（P〈0．05）,分别下降为组Ⅳ37．3％,组Ⅲ21．7％,组Ⅱ14．0％,组Ⅰ2．8％（F=28．894P=0．000）;血清HTase／PON活性均显著升高（均P〈0．05）,分别升高为组Ⅳ17．6％,组Ⅱ8．0％．组Ⅲ3．4％,组Ⅰ2．7％（F=36．100,P=0．000）。结论 甲钴胺降低血浆Hcy作用显著;联合用药对Hcy及HTase／PON的作用显著优于单独用药。叶酸可能通过其抗氧化特性间接影响HTase／PON活性。     

肝肾综合征62例临床特征分析

目的探讨肝肾综合征（HRS）临床特点及治疗方法。方法回顾性分析2007年8月～2009年12月收治的肝肾综合征62例，（分为Ⅰ型、Ⅱ型），其发病前后血清肌酐（CRE）、血钠、尿量的变化；采用综合药物治疗，抗炎保肝、利尿、补充白蛋白、抗感染等治疗的基础上加用0．9％氯化钠10mL＋多巴胺40mg＋呋塞米60mg腹腔注射，与中药辨证联合施治。结果Ⅰ型、Ⅱ型与发病前CRE水平比较，差异有统计学意义（t=9．8428、11．722，P均〈0．01）；Ⅰ型、Ⅱ型与发病前血钠水平比较，差异有统计学意义（t=7．2161、3．4674，P均〈0．01）；Ⅰ型、Ⅱ型与发病前尿量水平比较，差异有统计学意义（t=-32．170、16．583，P均〈0．01）；Ⅰ型与Ⅱ型发病后血清肌酐水平比较（t=4．2829，P〈0．01）；Ⅰ型与Ⅱ型发病后血钠水平比较（t=14．323，P〈0．01）；Ⅰ型与Ⅱ型发病后尿量比较（t=17．365，P〈0．01）。Ⅰ型生存率为0，Ⅱ型平均生存152d，超过1年生存时间6例（9．7％）。结论上消化道出血、大量腹水、继发感染、大量放腹水等是诱发HRS主要原因。     

强直性肌营养不良症16例病理分析

目的 探讨强直性肌营养不良症（DM）的病理学特点.方法 16例DM患者均行骨骼肌活检,14例取肱二头肌,1例取胫前肌,l例取腓肠肌活检.分析患者的肌肉病理学表现.结果 16例中心核肌纤维阳性率为93.7％（15/16）,肌浆块或环状纤维56.3％（9/16）,选择性Ⅰ型肌纤维萎缩43.7％（7/16）,肌纤维肥大100％（16/16）,为DM的病理学主相;14例取肱二头肌活检的病例中,肌浆块和环状纤维均只在病程为10年以上的7例患者中出现,但在另外2例活检部位选择腓肠肌和胫前肌的患者,尽管病程分别只有1个月和1年,也见到典型大量的肌浆块及环状纤维,提示肌肉活检部位选择带给病理结果的差异性.结论 肌肉活检对本病的诊断有一定的临床意义.     

强直性肌营养不良症15例的临床分析

目的总结强直性肌营养不良症（DM）的临床特点。方法回顾分析15例DM患者的临床资料。结果 15例患者均属成年型DM,其中12例在青年期起病,病程进展缓慢;6例有家族史。临床表现以肌强直、肌无力及肌萎缩为主,肢体远端肌、面肌、吞咽构音肌群、颈肌受累较多见,可伴全身多系统受累。血清肌酸激酶正常或轻度升高;肌电图发现典型肌强直放电及肌源性损害,亚临床肌强直诊断率100%;肌肉病理检查提示核内移、核增多、核链形成及I型肌纤维萎缩为主,14例取肱二头肌活检的患者中,6例病程在10年以上的患者发现肌浆块、环状纤维。结论 DM的临床特征是肌强直、肌无力、肌萎缩;肌电图是诊断亚临床肌强直的最佳方法;肌活检对DM诊断具有重要意义。     

2型糖尿病合并冠心病与血管紧张素转化酶Ⅰ基因多态性的相关性及脂质代谢的研究

目的：探讨2型糖尿病（DM）合并冠心病（CHD）与血管紧张素转化酶Ⅰ（ACE）基因插入／缺失（I／D）多态性的相关性及其各基因型脂代谢情况，方法：采用多聚酶链反应（PCR）技术，对32例广西地区汉族2型DM合并CHD患者，88例2型DM无合并CHD患者及100名汉族正常对照的ACE基因I／D多态性及血脂进行检测。结果：2型DM合并CHD组ACE基因D等位基因及ID基因型发生频率高于正常对照组及无合并CHD组（P＜0．05），Ⅰ等位基因及Ⅱ基因型频率低于正常对照组及无合并CHD（P＜0．05）。2型DM合并CHD组ID基因型组甘油三酯（TG）及总胆固醇（TC）高于正常对照组、DD基因型组及Ⅱ基因型组，高密度脂蛋白胆固醇（HDL－C）低于正常对照组，低密度脂蛋白胆固醇（LDL－C）高于正常对照组（P＜0．05）。2型DM合并CHD DD基因型组LG、LDL－C及TC高于正常对照组（P＜0．05）。结论：（1）广西地区汉族2型DM合并CHD与ACE基因I／D多态性有关。（2）D等位基因及ID基因型可能为2型DM合并CHD的易感基因，Ⅰ等位基因及Ⅱ基因型可能为2型DM合并CHD的保护基因，（3）广西地区汉族2型DM合并CHD的ID基因型者及DD基因型者易合并高甘油三酯血症及高胆固醇血症。     

强直性肌营养不良骨骼肌Akt通路活性与病理改变的相关性分析

目的：研究强直性肌营养不良（myotonic dystrophy, DM）患者骨骼肌Akt信号通路活性改变及与骨骼肌病理改变之间的相关性。方法：7例经临床、电生理和病理检查确诊的DM1型（DM1）患者为实验组,7例无骨骼肌病理改变的患者为对照组。实验组患者发病年龄6~35岁,病程1~20年,临床均表现为肢体远端为主的肌强直、肌无力和肌萎缩,肌酸激酶在271~1 325 U/L之间,肌电图显示肌源性损害伴随大量强直电位发放。所有患者均进行了肌肉活检病理检查,并用Western blot测定总Akt、磷酸化Akt（p-Akt）和其下游信号分子磷酸化核糖体蛋白S6 激酶（ribosomal protein S6 kinase , p70s6k）的活性,比较骨骼肌Akt、p-Akt、磷酸化p70s6k（p-p70s6k）活性在实验组与对照组之间的差异,及实验组骨骼肌总Akt、p-Akt、p-p70s6k活性与患者肌纤维肥大、核内移和肌浆块等病理改变之间的相关性。结果：肌肉活检发现肌营养不良改变伴随大量核内移现象以及肌膜下出现嗜碱性胞浆块,DM1患者的总Akt、p-Akt、p-p70s6k及p-Akt/Akt的光密度值显著高于对照组（Akt: t=4.110,P＝0.006; p-Akt: t=4.408 ,P=0.004; p-p70s6k: t=4.113,P=0.005; p-Akt/Akt: t=4.055, P=0.002）。实验组总Akt、p-Akt、p-p70s6k的活性水平和肌纤维肥大均呈显著正相关（Akt ：r=0.825,P=0.015; p-Akt：r=0.914,P=0.004;p-p70s6k：r=0.916,P=0.004),与肌浆块以及核内移的出现频率无显著相关。结论：DM1患者的骨骼肌存在Akt信号通路的广泛活化,并可能因此导致该病的肌纤维病理性肥大。     

2006和2011年体检人群空腹血糖和血尿酸纵向变化

目的：通过分析固定体检人群在2006和2011年健康体检空腹血糖（GLU）和血尿酸（UA）结果,了解体检人群近6年GLU和UA水平和分布特征变化,为更好地做好干部保健服务提供依据。方法：筛选2006和2011年在我院体检者10741名为此次调查对象,按2011年体验时的年龄分组,比较各组不同性别之间GLU和UA水平变化情况。结果：2006年体检人群GLU平均值为（5．48±0．95）mmol·L^-1,2011年增至（5．71±1．10）mmol·L^-1,两者差异有统计学意义（t=18．614,P=0．000）。2006年体检人群空腹血糖调节受损（IFG）检出率为23．5％,DM（糖尿病）检出率为4．5％;而2011年IFG检出率为33．6％（∥=315．4,P=0．000）,DM检出率为7．3％（χ2=132．1,P=0．000）。2006年体检人群男性IFG检出率为27．2％,DM检出率为5．6％;2011年男性IFG检出率增至38．2％（χ2=262．0,P=0．ooo）,DM检出率增至9．3％（χ2=133．8,P=0．000）。2006年体检人群女性IFG检出率为14．7％,DM检出率为1．8％;2011年IFG检出率增至22．6％（χ2=68．643,P=0．000）,DM检出率增至2．7％（χ2=9．240,P=0．002）。2006年体检人群UA平均值为（349．91±84．86）μmol·L^-1,高尿酸血症检出率为21．6％;2011年体检人群UA平均值为（360．60±86．68）μmol·L^-1,高尿酸血症检出率为26．5％。2011年体检人群UA平均水平（t=12．941,P=0．000）及体检人群高尿酸血症检出率（χ2=87．806,P=0．000）明显高于2006年。在IFG期UA平均水平随血糖升高而升高,而当进展到DM阶段,UA平均水平有所下降,但仍高于GLU正常水平的体检人群。结论：过去6年中IFG、DM和高尿酸血症检出率明显增加,且男性远高于女性;高尿酸血症与IFG及DM发病率关系密切。     

Value of D-Dimers in patients with acute aortic dissection

Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P ＜ 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (＞0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P ＜0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P ＜ 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.     

Research of combined liver-kidney transplantation model in rats

Objective： To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods： SD rats served as both donors and recipients. 4℃ sodium lactate Ringer＇s was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava （IVC） inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results： Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion： This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.     

Development on Adjustable Calibration Marker for Shock Wave Focus

Shock wave lithotripsy （SWL） is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it＇s difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.     

Study on the TCM Pathogenesis of Angiopathic Complications of Type II Diabetes

Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.     

Leptin, Ghrelin and TNF-α before and after Hypo-caloric Traditional Chinese Diet and Auricular Acupuncture

INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5     

Relationship between Dysglycemia and Carotid Atherosclerosis in Tibetan Population

People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

安心颗粒对急诊经皮冠状动脉介入术后生活质量影响的研究

目的：评价使用安心颗粒对急诊经皮冠状动脉介入术（PPCI）术后生活质量的影响.方法：将160例接受PPCI的急性ST段抬高型心肌梗死患者随机分为安心颗粒组（术前顿服安心颗粒8.8g,术后安心颗粒4.4 g/次,每日2次）和对照组（仅接受基础药物治疗）.所有患者均服用阿司匹林、氯吡格雷和阿托伐他汀.分别在入院时、出院前1d、出院后180 d时,应用心肌梗死多维度量表（MIDAS）、中文版SF-36评价量表对患者生活质量评分.并观察术后30 d以内的出血并发症、血小板减少症发生情况.结果：入院时和出院前1d,两组患者的心肌梗死MIDAS、SF-36量表评分比较无差异（P＞0.05）;出院后180 d时,与对照组比较,安心颗粒组MIDAS、SF-36评分明显减低（P＜0.05）;组内与入院时比较,两组出院前1d、出院后180 d时,MIDAS、SF-36评分均降低（P＜0.05）.两组患者在随访期间均无大量出血、少量出血、重度和极重度血小板减少症发生,安心颗粒组有4例、对照组有7例发生不明显出血（P＞0.05）.两组发生轻度血小板减少症的患者数比较无差异（P＞0.05）.结论：PPCI使用安心颗粒,能改善急性ST段抬高型心肌梗死患者的生活质量,且不增加出血风险.     

CLINICAL SIGNIFICANCE OF SERUM CYTOKINES IL-1β,sIL-2R,IL-6,TNF-α,AND IFN-v IN ACUTE CORONARY SYNDROME

Objectives To explore serum cytokines levels (including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v) and their significance in patients with acute coronary syndrome (ACS) and the subsequent follow-ups, with attempt to estimate the role of various serum inflammatory markers in the diagnosis and assessment of ACS.Methods The study population include 40 patients with acute myocardial infarction (AMI), 40 patients with unstable angina pectoris (UAP), and 40 controls. Among the 80 patients, 60 patients attended a follow up 4 months later. Serum inflammatory markers including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v were measured by enzyme linked immunosorbent assay.Results Serum IL- 1 β, sIL-2R, IL-6, TNF-α were significantly higher in AMI group or UAP group compared to the control group and became significantly lower 4 months later in the follow-up patients. Serum levels of IFN-v shows no significant difference between AMI group or UAP group and controls, also showing no significant change when measured in follow up patients. There was no correlation between serum creatine kinase-MB isoenzyme levels and serum inflammatory markers either in UAP or AMI group. Furthermore, when divided into two subgroups using Wagner's QRS scoring system in the AMI group, there is no difference of each serum inflammatory marker between ≤ 6 scores group and ＞ 6 scores group.Conclusion Serum levels of certain inflammatory markers may have some diagnostic value for ACS, and can be a useful marker reflecting disease stability.     

Possible Spread of adenovirus type 3 from poultry to humans ：indirect evidence from an outbreak in China

Objective:To explore the epidemiology and etiology for an outbreak of acute respiratory tract infection that occurred in one county of Jiangsu Province, China 2004. Methods: Only cases meeting the case definition were included in the study. We reviewed the medical records of the cases who were admitted to the local hospitals, interviewed cases by a standard questionnaire, and then described the epidemiotogic features and analyzed risk factors by means of a case-control study. We collected pharyngeal swab specimens and sent them to different laboratories for isolation and culture. The laboratory used different detection methods such as DIP, PCR, electron microscope examination and microneutralization assay, to identify and then type the positive specimens. Results:A total of 871 cases were reported during the period from April 18 to July 4,2004. The distribution of onset times presented two peaks, one in late May and another in middle June. The epidemic occurred mainly in the elementary and junior high schools in ten townships of one county, and the mean age of the cases was 12 years (range 7 months to 18 years). The course of the disease was acute, and was characterized by fever accompanied with sore throat and tonsillitis. The WBC count of cases was normal or elevated. The mean duration of illness was 5 days (range 2 to 12 days). No fatalities from illness were reported. A case-control study indicated that the possible risk factors were close contact with a case and/or poultry before onset and sharing of towels among members of the family. The typical CPE was observed through inoculating pharyngeal swab specimens into the HEP-2 cell cultures in different laboratories. An infection of adenovirus type 3 was verified by detecting positive specimens in different methods. Conclusion:This investigation demonstrated that the acute respiratory infection in cases was caused by adenovirus type 3. Cases occurred in over 70 schools in ten townships in 2004, and the route of transmission was possibly close contact with cases or droplet transmission.